HSD3B2

Function

3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.

Involvement in disease

Adrenal hyperplasia 2

AH2

A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late-onset (NC or LOAH) and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life.

None

The disease is caused by variants affecting the gene represented in this entry.

Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion.

Pathway

Lipid metabolism; steroid biosynthesis.

Sequence Similarities

Belongs to the 3-beta-HSD family.

Tissue Specificity

Expressed in adrenal gland, testis and ovary.

Cellular localization

• Endoplasmic reticulum membrane
• Single-pass membrane protein
• Mitochondrion membrane
• Single-pass membrane protein

Alternative names

HSDB3B, HSD3B2, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2, 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II, 3-beta-HSD adrenal and gonadal type, 3-beta-HSD II

Database links

swissprot:P26439 swissprot:P14060 omim:201810 entrezGene:3284 entrezGene:3283